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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Blood Rev. 2019 Jul 16;37:100589. doi: 10.1016/j.blre.2019.100589

Fig. 2.

Fig. 2.

Types of Abnormalities. TEF, trachea-esophageal fistula; Esoph/duod, esophageal or duodenal atresia; neuro, neurological; dev, developmental; FA, Fanconi anemia; GI, gastrointestinal. Upper limb includes abnormal thumb +/− abnormal radius. Neuro structure includes structural brain malformations other than hydrocephalus. Otology comprises ear malformations and/or hearing loss. The heading “Other findings” includes anomalies not contained in VACTERL-H or PHENOS. Gray: any or no abnormality; solid blue or orange: VACTERL-H or PHENOS; horizontal stripes: individual findings. Horizontal axis: abnormalities analyzed; vertical axis: percent of total cases with that abnormality. VACTERL-H association (≥3/8 features) was present in 12% and PHENOS (≥4/6 features) in 9% of patients. The most frequent features (unrelated to criteria for VACTERL-H or PHENOS) were: short stature (43%), upper limb (radial ray) abnormalities (40%), skin pigmentary changes (37%), renal malformations (27%), and small head (27%). The rest of the abnormalities were less than 20%.